ClinVar Miner

List of variants in gene combination CDKL5, RS1 reported as not provided

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Gene type:
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Total variants: 110
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HGVS dbSNP
NM_000330.4(RS1):c.658_*7del (p.Val220fs) rs281865371
NM_003159.2(CDKL5):c.2714-1384C>T rs61752075
NM_003159.2(CDKL5):c.2714-1385A>G rs1801161
NM_003159.2(CDKL5):c.2714-1385A>T rs1801161
NM_003159.2(CDKL5):c.2714-1391C>A rs61752144
NM_003159.2(CDKL5):c.2714-1391C>G rs61752144
NM_003159.2(CDKL5):c.2714-1392G>A rs61752145
NM_003159.2(CDKL5):c.2714-1405_2714-1404insA rs61752146
NM_003159.2(CDKL5):c.2714-1421C>G rs61752147
NM_003159.2(CDKL5):c.2714-1429_2714-1426del rs61752148
NM_003159.2(CDKL5):c.2714-1435A>G rs61752149
NM_003159.2(CDKL5):c.2714-1447_2714-1446del rs281865347
NM_003159.2(CDKL5):c.2714-1452T>A rs61752151
NM_003159.2(CDKL5):c.2714-1459C>A rs61752152
NM_003159.2(CDKL5):c.2714-1462A>G rs61752153
NM_003159.2(CDKL5):c.2714-1467T>C rs61752154
NM_003159.2(CDKL5):c.2714-1471del rs61752155
NM_003159.2(CDKL5):c.2714-1473C>T rs61752156
NM_003159.2(CDKL5):c.2714-1474C>T rs61752157
NM_003159.2(CDKL5):c.2714-1476G>A rs61752158
NM_003159.2(CDKL5):c.2714-1476G>C rs61752158
NM_003159.2(CDKL5):c.2714-1477C>T rs61752159
NM_003159.2(CDKL5):c.2714-1480_2714-1479del rs61753160
NM_003159.2(CDKL5):c.2714-1481A>C rs1800001
NM_003159.2(CDKL5):c.2714-1481A>G rs1800001
NM_003159.2(CDKL5):c.2714-1483T>A rs61753161
NM_003159.2(CDKL5):c.2714-1491C>T rs61753162
NM_003159.2(CDKL5):c.2714-1493C>G rs61753163
NM_003159.2(CDKL5):c.2714-1515G>A rs61753164
NM_003159.2(CDKL5):c.2714-1519T>C rs61753165
NM_003159.2(CDKL5):c.2714-1527C>T rs1800002
NM_003159.2(CDKL5):c.2714-1544C>A rs61753166
NM_003159.2(CDKL5):c.2714-1544C>T rs61753166
NM_003159.2(CDKL5):c.2714-1554T>A rs61753167
NM_003159.2(CDKL5):c.2714-1556C>G rs61753168
NM_003159.2(CDKL5):c.2714-1578C>A rs281865348
NM_003159.2(CDKL5):c.2714-1578C>T rs281865348
NM_003159.2(CDKL5):c.2714-1582C>T rs200074383
NM_003159.2(CDKL5):c.2714-3849T>C rs281865349
NM_003159.2(CDKL5):c.2714-3861C>T rs61753169
NM_003159.2(CDKL5):c.2714-3863T>C rs61753170
NM_003159.2(CDKL5):c.2714-3872G>A rs61753171
NM_003159.2(CDKL5):c.2714-3877_2714-3876dup rs61753172
NM_003159.2(CDKL5):c.2714-3882G>A rs61753173
NM_003159.2(CDKL5):c.2714-3902G>A rs61753174
NM_003159.2(CDKL5):c.2714-3902G>T rs61753174
NM_003159.2(CDKL5):c.2714-3902dup rs199469697
NM_003159.2(CDKL5):c.2714-3903G>C rs61753175
NM_003159.2(CDKL5):c.2714-3905G>A rs281865351
NM_003159.2(CDKL5):c.2714-3905_2714-3904insA rs281865350
NM_003159.2(CDKL5):c.2714-3906G>A rs281865352
NM_003159.2(CDKL5):c.2714-3917G>A rs281865354
NM_003159.2(CDKL5):c.2714-3918C>G rs281865355
NM_003159.2(CDKL5):c.2714-3918C>T rs281865355
NM_003159.2(CDKL5):c.2714-3924A>G rs281865356
NM_003159.2(CDKL5):c.2714-3926G>A rs281865357
NM_003159.2(CDKL5):c.2714-3927C>T rs281865358
NM_003159.2(CDKL5):c.2714-3934G>A rs1800003
NM_003159.2(CDKL5):c.2714-3936G>A rs104894930
NM_003159.2(CDKL5):c.2714-3946C>T rs281865359
NM_003159.2(CDKL5):c.2714-3949G>C rs281865360
NM_003159.2(CDKL5):c.2714-3953G>A rs281865361
NM_003159.2(CDKL5):c.2714-3953G>C rs281865361
NM_003159.2(CDKL5):c.2714-3954C>T rs281865362
NM_003159.2(CDKL5):c.2714-3959C>T rs281865363
NM_003159.2(CDKL5):c.2714-3965G>A rs281865365
NM_003159.2(CDKL5):c.2714-3966C>T rs281865364
NM_003159.2(CDKL5):c.2714-3966del rs281865366
NM_003159.2(CDKL5):c.2714-3971C>G rs281865367
NM_003159.2(CDKL5):c.2714-3971C>T rs281865367
NM_003159.2(CDKL5):c.2714-3975A>G rs281865368
NM_003159.2(CDKL5):c.2714-3983A>C rs281865369
NM_003159.2(CDKL5):c.2714-3983A>G rs281865369
NM_003159.2(CDKL5):c.2714-3983del rs281865370
NM_003159.2(CDKL5):c.2714-3994C>G rs1800004
NM_003159.2(CDKL5):c.2797+1100C>T rs281865346
NM_003159.2(CDKL5):c.2797+1101C>T rs281865345
NM_003159.2(CDKL5):c.2797+1102C>A rs104894934
NM_003159.2(CDKL5):c.2797+1102C>G rs104894934
NM_003159.2(CDKL5):c.2797+1104A>C rs61752072
NM_003159.2(CDKL5):c.2797+1110dup rs61752071
NM_003159.2(CDKL5):c.2797+1115G>C rs61752070
NM_003159.2(CDKL5):c.2797+1119A>C rs61752069
NM_003159.2(CDKL5):c.2797+1122C>T rs61752068
NM_003159.2(CDKL5):c.2797+1123G>A rs61752067
NM_003159.2(CDKL5):c.2797+1126C>G rs61752066
NM_003159.2(CDKL5):c.2797+1127del rs63465862
NM_003159.2(CDKL5):c.2797+1134G>T rs61752065
NM_003159.2(CDKL5):c.2797+1139C>T rs61752064
NM_003159.2(CDKL5):c.2797+1141A>G rs61752063
NM_003159.2(CDKL5):c.2797+1151C>G rs61752062
NM_003159.2(CDKL5):c.2797+1160A>T rs61752061
NM_003159.2(CDKL5):c.2797+1161T>C rs61752060
NM_003159.2(CDKL5):c.2797+1165G>A rs61750459
NM_003159.2(CDKL5):c.2797+1172_2797+1174del rs61750458
NM_003159.2(CDKL5):c.2797+1185A>T rs61750457
NM_003159.2(CDKL5):c.2797+1204C>A rs62641252
NM_003159.2(CDKL5):c.2797+1206C>A rs104894933
NM_003159.2(CDKL5):c.2797+1208del rs62645900
NM_003159.2(CDKL5):c.2797+1210A>G rs62645899
NM_003159.2(CDKL5):c.2797+1211C>G rs104894932
NM_003159.2(CDKL5):c.2797+1213C>G rs104894928
NM_003159.2(CDKL5):c.2797+1213C>T rs104894928
NM_003159.2(CDKL5):c.2797+1218C>T rs62645895
NM_003159.2(CDKL5):c.2797+1219C>G rs62645894
NM_003159.2(CDKL5):c.2797+1233T>C rs62645892
NM_003159.2(CDKL5):c.2797+1233del rs62645893
NM_003159.2(CDKL5):c.2797+1243C>G rs281865344
NM_003159.2(CDKL5):c.3003C>G (p.His1001Gln) rs36022183
NM_003159.2(CDKL5):c.3084G>C (p.Thr1028=) rs139155110

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